Phase 2 Study of EPI-743 for Treatment of Rett Syndrome

Edison Pharmaceuticals Inc24 enrolled

Overview

Rett syndrome is a severe neurodevelopmental disorder that primarily affects female children. Rett syndrome is characterized by significant elevation in blood markers of oxidative stress. EPI-743 is a novel therapeutic with demonstrated efficacy and safety in the treatment of disorders characterized by oxidative stress. The purpose of this study is to examine the safety and efficacy of EPI-743 in a population of children with Rett syndrome.

Study Type

INTERVENTIONAL

Allocation

RANDOMIZED

Purpose

TREATMENT

Masking

QUADRUPLE

Enrollment

Conditions

Rett Syndrome

Interventions

EPI-743DRUG

PlaceboDRUG

Eligibility

Sex: FEMALEMax age: 18 Years

Medical Language ↔ Plain English

Inclusion Criteria: * Diagnosis of Rett syndrome with disease stage 1-2 * Abnormality of at least two disease biomarker levels * Confirmed MeCP2 mutation * Patient or patient's guardian able to consent and comply with protocol requirements * Abstention from use of Coenzyme Q10, vitamin E and Idebenone two weeks prior to enrollment into the study Exclusion Criteria: * Any condition, which in the opinion of the investigator could compromise the subject's safety or adherence to treatment with EPI-743. * Clinically significant allergy or hypersensitivity to EPI-743 or to any of the excipients of with EPI-743 (eg., sesame oil). * Clinically significant allergy or hypersensitivity to Vitamin E * Lack of confirmation of MeCP2 mutation * Clinical history of bleeding or abnormal baseline PT/PTT * Diagnosis of any other concurrent inborn error of metabolism * Hepatic insufficiency with LFTs greater than 3 times upper limit of normal * Renal insufficiency requiring dialysis * End stage cardiac failure * Fat malabsorption syndromes precluding drug absorption

Locations (1)

University of Siena

Siena, Italy